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Argininosuccinase deficiency in fibroblasts cultured from patients with argininosuccinic aciduria

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Abstract

Fibroblasts cultured from the skin of four mentally retarded patients with argininosuccinic aciduria were markedly deficient in argininosuccinase activity.

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References

  • Ceriotti, G., and Gazzaniga, A. (1966). A sensitive method for serum ornithine carbamyltransferase determination. Clin. Chim. Acta 14 57

    Google Scholar 

  • Eagle, H. (1959). Amino acid metabolism in mammalian cell cultures. Science 130 432.

    Google Scholar 

  • Farrell, G. (1969). Texas Med. (in press).

  • Lowry, D. H., Rosebrough, N. J., Farr, A. L., and Randall, R. J. (1951). Protein measurement with the Folin phenol reagent. J. Biol. Chem. 193 265.

    Google Scholar 

  • Moser, H. W., Efron, M. L., Brown, H., Diamond, R., and Neumann, C. G. (1967). Argininosuccinic aciduria. Report of two new cases and demonstration of intermittent elevation of blood ammonia. Am. J. Med. 42 9.

    Google Scholar 

  • Schimke, R. T. (1964). Adaptive characteristics of urea cycle enzymes in the rat. J. Biol. Chem. 239 136.

    Google Scholar 

  • Tedesco, T. A., and Mellman, W. J. (1967). Argininosuccinate synthetase activity and citrulline metabolism in cells cultured from a citrullinemic subject. Proc. Natl. Acad. Sci. 57 169.

    Google Scholar 

  • Tomlinson, G. S., and Westall, R. G. (1964). Argininosuccinic aciduria. Argininosuccinase and arginase in human blood cells. Clin. Sci. 26 261.

    Google Scholar 

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Authors and Affiliations

  1. Joseph P. Kennedy Jr. Memorial Laboratory, Neurology Service, Massachusetts General Hospital, Boston, Massachusetts

    Vivian E. Shih & Hugo W. Moser

  2. the Department of Neurology, Harvard Medical School, Boston, Massachusetts

    Vivian E. Shih & Hugo W. Moser

  3. and Department of Pediatrics, Harvard Medical School, Genetics Unit, Children's Service, Massachusetts General Hospital, Boston, Massachusetts

    John W. Littlefield

Authors
  1. Vivian E. Shih
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  2. John W. Littlefield
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  3. Hugo W. Moser
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Additional information

This work was supported by U.S. Public Health Service grants NB-05096 and CA-04670.

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Shih, V.E., Littlefield, J.W. & Moser, H.W. Argininosuccinase deficiency in fibroblasts cultured from patients with argininosuccinic aciduria. Biochem Genet 3, 81–83 (1969). https://doi.org/10.1007/BF00485974

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  • DOI: https://doi.org/10.1007/BF00485974

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